Variant report

Variant	rs72763193
Chromosome Location	chr5:44339785-44339786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17228283	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17234268	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17234541	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17250784	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56107445	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72761383	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72761384	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72763164	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763176	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763179	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72763180	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72763181	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72763190	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72763201	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72764708	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830374	chr5:43785548-44341631	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv4816	chr5:44307345-44352012	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44338400-44340000	Enhancers	Fetal Lung	lung
2	chr5:44338800-44339800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:44339400-44340000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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